Laura Melchionda, Tobias B. Haack, Steven Hardy, Truus E.M. Abbink, Erika Fernandez-Vizarra, Eleonora Lamantea, Silvia Marchet, Lucia Morandi, Maurizio Moggio, Rosalba Carrozzo, Alessandra Torraco, Daria Diodato, Tim M. Strom, Thomas Meitinger, Pinar Tekturk, Zuhal Yapici, Fathiya Al-Murshedi, René Stevens, Richard J. Rodenburg, Costanza Lamperti, Anna Ardissone, Isabella Moroni, Graziella Uziel, Holger Prokisch, Robert W. Taylor, Enrico Bertini, Marjo S. van der Knaap, Daniele Ghezzi, Massimo Zeviani
Am J Hum Genet. 2014 Sep 4; 95(3): 315–325. doi: 10.1016/j.ajhg.2014.08.003